International Journal of Contemporary Pediatrics

Sharma S et al. Int J Contemp Pediatr. 2014 May;1(1):48-51

http://www.ijpediatrics.com pISSN 2349-3283 | eISSN 2349-3291

DOI: 10.5455/2349-3291.ijcp20140514
Case Report

Palmoplantar keratoderma and edentulous status: two isolated

expressions of Papillon-Lefèvre syndrome
Seema Sharma1*, Vipin Sharma2, Milap Sharma1, Sanjeev Chaudhary1

1
Department of Paediatrics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal
Pradesh, India
2
Department of Orthopaedics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal
Pradesh, India

Received: 25 April 2014

Accepted: 9 May 2014

*Correspondence:
Dr. Seema Sharma,
E-mail: seema406@rediffmail.com

© 2014 Sharma S et al. This is an open-access article distributed under the terms of the Creative Commons Attribution
Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any
medium, provided the original work is properly cited.

ABSTRACT

Papillon-Lefèvre Syndrome (PLS) is a rare, autosomal recessive disease comprising palmoplantar keratoderma and
rapidly progressive and devastating periodontitis, affecting the primary as well as the permanent dentition, attributed
to a point mutation of the Cathepsin C gene (CTSC). One of our patients had early onset of severe skin lesions with
recurrent pyogenic infections while his elder sibling was edentulous without any other pyogenic infections. This paper
describes the clinical variants of PLS in two siblings and briefly reviews the relevant available literature.

Keywords: Keratoderma, Onychodystrophy, Papillon-Lefèvre syndrome

INTRODUCTION two siblings. Familiarity with clinical presentation of this

Papillon-Lefèvre Syndrome (PLS) is characterized by
palmoplantar keratoderma (PPK) and juvenile
periodontitis. Its reported incidence is 1-4 per million and
both the sexes are equally affected.1 Patients have an
underlying functional or quantitative neutrophil
abnormalities, and 50% will be immune compromised. It
manifests between 1-5 year of life and the patient
becomes edentulous in the early teens. About 20% of
these patients also show an increased susceptibility to
infections due to some dysfunction of lymphocytes and
leukocytes. The incidence of this rare entity is increasing
in the recent times, which is associated with irreparable
periodontal destruction at an early age, with not so
prominent skin lesions in some cases.2 Most of the
previous case studies on Papillon-Lefèvre syndrome
explained the clinical presentation.3,4 In this paper we
emphasizes on the variant clinical presentations of PLS in
uncommon disease is essential for accurate clinical
diagnosis and appropriate management.
CASE REPORT
Two siblings 15 and 17 years of age presented to us with
this disease condition. The younger one had palmoplantar
hyperkeratosis since four years of age and currently fever
of 2 weeks duration. The fever was persistent, high-
grade, and associated with chills and night sweats. There
was history of an abdominal mass associated with right
upper quadrant pain. The pain was a dull ache,
intermittent, non-radiating and unassociated with
vomiting, diarrhea, or jaundice. There was significant
medical history for recurrent pyogenic infections in the
form of pyogenic liver abscesses and empyema thoracis
(Figure 1). He was the second of two, born to apparently
healthy non-consanguineous parents after an uneventful

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 Sharma S et al. Int J Contemp Pediatr. 2014 May;1(1):48-51
pregnancy and birth. There was no family history of
ichthyosis or hereditary or acquired palmoplantar
keratodermas.
Figure 1: CT thorax showing left empyema-thoracis.
On physical examination, both were well developed and
well nourished. The younger child was febrile with a
temperature of 40°C, but other vital signs were normal.
He had a diffuse erythematous palmoplantar
hyperkeratosis (PPK) with transgrediens to the dorsae of
the hands and feet. He also had multiple, sharply defined,
scaly hyperkeratotic plaques over the elbows and knees
(Figure 2). The liver was tender and palpable 4 cm below
the right costal margin. The spleen was not palpable. No
other cutaneous lesion, abnormality of hair, nails or
sweating and periodontal disease was noted. Other
systemic examination, complete blood count, blood
chemistry profile, and liver function tests were normal.
Blood, urine, and stool cultures were all negative.
Histopathological examination of erythematous plaques
revealed orthokeratotic type hyperkeratosis, acanthosis,
loss of stratum granulosum and minimal dermal
perivascular mononuclear infiltration. Abdominal
ultrasound and subsequent Computed Tomography (CT)
of the abdomen with contrast showed a solitary liver
abscess measuring 7 cm × 6 cm (Figure 3) for which
initial differential diagnosis of a pyogenic or amebic liver
abscess was kept. Ultrasound-guided drainage was
performed, and 100 ml of thick, yellowish exudate was
obtained which grew staphylococcus aureus, sensitive to
cloxacillin and vancomycin on culture. Because of the
rarity of liver abscess in immunocompetent children, and
the presence skin lesions, a dermatology consultation was
requested, which established the diagnosis of PLS.
Figure 2: Sharply defined multiple hyperkeratotic
spots over hands, feet, elbows and knees.
International Journal of Contemporary Pediatrics | April-June 2014 | Vol 1 | Issue 1
Figure 3: CT abdomen showing single solitary liver
abscess measuring 7 cm x 6 cm.
The patient was treated with cloxacillin intravenously for
4 weeks, followed by oral therapy for another 2 weeks.
The patient recovered dramatically and was discharged in
a good condition. Keratolytic preparations containing
20% salicylic acid were prescribed for the skin lesions.
The elder sibling reported having history of recurrently
swollen and friable gums since age of 4 years which
started with a chief complaint of loosening teeth and
discomfort on eating. All teeth showed mobility, with
periodontal pockets, bleeding on probing and gingival
recession. Past dental history revealed that since
childhood the teeth exfoliated one by one by the age of
14 years. Dental treatment done for this patient included
oral prophylaxis, extraction of teeth with poor prognosis
followed by replacement with removable prosthesis due
to edentulous status (Figure 4). The patient was not
diagnosed with PLS previously and he had received only
dental treatment. Rest of his past medical history was
unremarkable. In view of the above findings and history
along with remarkable presentation in younger sibling,
the case was diagnosed as PLS. Due to financial issues,
genetic testing was not performed to identify responsible
mutations.
Figure 4: Edentulous status.
DISCUSSION
PLS was first described by Papillon and Lefèvre in 1924.5
The disorder is characterized by diffuse palmoplantar
keratoderma and premature loss of both deciduous and
permanent teeth. The palmoplantar keratoderma typically
has its onset between the ages 1 and 4 years. The sharply
demarcated erythematous keratotic plaques may occur
focally, but usually involve the entire surface of the
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 Sharma S et al. Int J Contemp Pediatr. 2014 May;1(1):48-51
palms and soles, sometimes extending onto the dorsal
surfaces of the hands and feet. It may be punctate, striate
or diffuse with trans gradient. Hyperkeratotic lesions may
also be seen on knees, elbows and achillis tendon areas.
Often, there is associated hyperhidrosis of the palms and
soles resulting in a foul-smelling odor. The findings may
worsen in winter and be associated with painful fissures.
The second major feature of PLS is severe periodontitis,
which starts at age 3 or 4 years. The development and
eruption of the deciduous teeth proceed normally, but
their eruption is associated with gingival inflammation
and subsequent rapid destruction of the periodontium.
The resulting periodontitis characteristically is
unresponsive to traditional periodontal treatment
modalities and the primary dentition is usually exfoliated
prematurely by age 4 years. After exfoliation, the
inflammation subsides and the gingiva appears healthy.
However, with the eruption of the permanent dentition
the process of gingivitis and periodontitis is usually
repeated and there is subsequent premature exfoliation of
the permanent teeth. All the erupted permanent teeth are
then lost after periodontal inflammation by the age of 13-
16 years. Later the third molars also undergo te same fate.
Severe resorption of alveolar bone gives the teeth a
“floating-in-air” appearance on dental X-ray film.
Hairs are usually normal and nails may show
onychodystrophy, transverse grooving, claw like
phalanges, convex nails (arachnodactyly) and osteolysis.
In addition to the skin and oral findings, patients may
have decreased neutrophil, lymphocyte, or monocyte
functions and an increased susceptibility to bacteria,
associated with recurrent pyogenic infections. An
estimated 17% of patients present with marked
predisposition to a variety of usually mild infections like
skin pyodermas. Occasionally, fatal infections like
multiple abdominal abscesses and cerebral abscesses
have been reported.6 Pyogenic liver abscess is
increasingly recognized as a complication of PLS
associated with impairment of the immune system. Other
minor features of PLS include calcification of the dura,
falx cerebri, tentorium cerebelli, and choroids plexus.
Histopathological findings of affected skin have not been
well described in the literature.
The cause of PLS is not well understood, but recent
studies have suggested loss-of-function mutations
affecting both the alleles of the cathepsin-C gene, located
on the 11q14-q21 region of the chromosome encoding a
lysosomal protease in the interval between D11S4082
and D11S931.7,8 It is expressed at high levels in various
immune cells, including polymorphonuclear leukocytes,
macrophages and their precursors.3 The cathepsin C gene
encodes a cysteine-lysosomal protease also known as
dipeptidyl-peptidase I, which functions to remove
dipeptides from the amino terminus of the protein
substrate. It also has endopeptidase activity. The
cathepsin-C gene is expressed in epithelial regions
commonly affected by PLS such as palms, soles, knees,
International Journal of Contemporary Pediatrics | April-June 2014 | Vol 1 | Issue 1
and keratinized oral gingiva. It is also expressed at high
levels in various immune cells including
polymorphonuclear leukocytes, macrophages, and their
precursors. An interesting feature of the cathepsin C gene
is that mutations in this gene also result in two other
closely related conditions: the Haim-Munk syndrome,
and prepubertal periodontitis. A common clinical
manifestation in all three syndromes is severe early-onset
periodontitis.9
All PLS patients are homozygous for the same cathepsin-
C mutations inherited from a common ancestor. Parents
and siblings, heterozygous for cathepsin C mutations do
not show either the palmoplantar hyperkeratosis or severe
early onset periodontitis characteristic of PLS. The exact
mechanism of the increased susceptibility to infections is
also unknown, but some investigators have demonstrated
a dysfunction in neutrophil motility and bactericidal
function. Neutrophil and T-cell dysfunctions have been
suggested as immunological features of PLS.10
Chemotactic and phagocytic function of neutrophils is
decreased in PLS, and it is associated with a diminished
phytohemagglutinin response by T-cell lymphocytes. In
consistence with previous reports, consanguineous
marriage was found in fifty percent of our patients
implying the genetic basis for the disease.11,12
PLS is an uncommon autosomal recessive type-IV
palmoplantar ectodermal dysplasia. Of the palmoplantar
ectodermal dysplasias, only PLS and Haim-Munk
syndrome (HMS) are associated with premature
periodontal destruction.
Haim-Munk syndrome is an autosomal-recessive
genodermatosis characterized by congenital palmoplantar
keratoderma and progressive early-onset perodontitis. In
addition to palmoplantar keratosis and periodontitis, other
clinical findings include recurrent pyogenic skin
infections, acro-osteolysis, atrophic changes of the nails,
arachnodactyly, and a peculiar radiographic deformity of
the fingers consisting of tapered, pointed phalangeal
ends, claw-like volar curve, and pes planus suggestive of
HMS being a distinct disorder.
Prepubertal periodontitis is differentiated from PLS by
the absence of associated palmoplantar keratoderma.
Maximum severity of hyperkeratosis coincides with
severity of periodontal disease. It tends to improve by
puberty and after exfoliation of all the permanent teeth.
The skin manifestations of PPK are usually treated with
emollients. Salicylic acid and urea may be added to
enhance their effects.13 Treatment for the periodontitis
includes extraction of the primary teeth combined with
oral antibiotics and professional teeth cleaning.13
Moreover this allows solid base for subsequent use of
artificial dentures. Oral retinoids including acitretin,
etretinate and isotretinoin are the mainstay of the
treatment of both the keratoderma and periodontitis
associated with PLS. However, normal dentition is
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 Sharma S et al. Int J Contemp Pediatr. 2014 May;1(1):48-51
observed with retinoids only when given before the onset
of permanent teeth at 5 years of age.14
CONCLUSION
This rare yet very fascinating condition requires a careful
history and examination for diagnosis. Delayed diagnosis
and insufficient treatment of PLS patients can affect
patient's life by early edentulism and will impose a great
risk of social, psychological, and economical burdens on
patients. A multidisciplinary approach is important for
management. Stronger evidence is needed to support the
use of prophylactic antibiotics in these patients to prevent
infections. Further studies are required to discover a
genetic basis and to establish appropriate treatment
modalities.
Funding: No funding sources
Conflict of interest: None declared
Ethical approval: Not required
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DOI: 10.5455/2349-3291.ijcp20140514
Cite this article as: Sharma S, Sharma V, Sharma M,
Chaudhary S. Palmoplantar keratoderma and
edentulous status: two isolated expressions of
Papillon-Lefèvre syndrome. Int J Contemp Pediatr
2014;1:48-51.
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